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The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs. 2023

P Pękala, and D Felkle, and K Dykas, and A Jarosz, and P Elnazir, and T Konopka, and J A Walocha, and J Dulinska-Litewka
Department of Anatomy, Jagiellonian University Medical College, Krakow, Poland. pekala.pa@gmail.com.

BACKGROUND There is a specific polymorphism of the ACAN gene called the variable number of tandem repeats (VNTR), which is particularly interesting in the light of the development of intervertebral disc pathology and associated low back pain. METHODS The nucleus pulposus specimens were harvested from the L5/S1 intervertebral discs. The aggrecan content was determined using enzyme- linked immunosorbent assay (ELISA). Moreover, the VNTR polymorphism in the ACAN gene was evaluated. RESULTS The genotyping of VNTR polymorphism in ACAN gene was successful in 94 tissue samples (48 homozygotes and 46 heterozygotes). The alleles were divided into four groups, in accordance with the number of tandem repeats in the ACAN gene. No difference between groups in the mean aggrecan mass nor in the mean degree of tissue moisture was observed. CONCLUSIONS No relationship between the ACAN gene VNTR polymorphism and the aggrecan content was observed in studied Caucasian cadavers. Such a relationship may be a more complex phenomenon and exists in other populations.

UI MeSH Term Description Entries
D007403 Intervertebral Disc Any of the 23 plates of fibrocartilage found between the bodies of adjacent VERTEBRAE. Disk, Intervertebral,Intervertebral Disk,Disc, Intervertebral,Discs, Intervertebral,Disks, Intervertebral,Intervertebral Discs,Intervertebral Disks
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D053674 Aggrecans Large HYALURONAN-containing proteoglycans found in articular cartilage (CARTILAGE, ARTICULAR). They form into aggregates that provide tissues with the capacity to resist high compressive and tensile forces. Aggrecan,Cartilage-Specific Proteoglycan Core Proteins,Cartilage Specific Proteoglycan Core Proteins
D018598 Minisatellite Repeats Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit. Minisatellite,Minisatellite Repeat,VNTR Loci,VNTR Region,VNTR Sequence,VNTR Sequences,Variable Number Of Tandem Repeat,Variable Number Tandem Repeat,Variable Number of Tandem Repeats,Variable Tandem Repeat,Minisatellites,Variable Number Tandem Repeats,Variable Tandem Repeats,Loci, VNTR,Locus, VNTR,Region, VNTR,Regions, VNTR,Repeat, Minisatellite,Repeat, Variable Tandem,Repeats, Minisatellite,Repeats, Variable Tandem,Sequence, VNTR,Sequences, VNTR,Tandem Repeat, Variable,Tandem Repeats, Variable,VNTR Locus,VNTR Regions
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic

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